Scopus
YÖKSİS DOI Eşleşti
SJR Q3
Would mean platelet volume/platelet count ratio be used as a novel formula to predict 22q11.2 deletion syndrome?
Asian Pacific Journal of Allergy and Immunology · Haziran 2016
YÖKSİS Kayıtları
Would Mean Platelet Volume/Platelet Count Ratio be Used as a Novel Formula to Predict 22q11.2 Deletion Syndrome?
Asian Pacific Journal of Allergy and Immunology · 2016 SCI-Expanded
Öğr. Gör. REYHAN KARA →
Would mean platelet volume platelet count ratio be used as a novel formula to predict 22q11 2 deletion syndrome
Asian Pacific Journal of Allergy and Immunology · 2016 SCI-Expanded
Prof. Dr. HASİBE ARTAÇ →
YÖKSİS Kayıtları — ISSN Eşleşmesi
Would Mean Platelet Volume/Platelet Count Ratio be Used as a Novel Formula to Predict 22q11.2 Deletion Syndrome?
2016 ISSN: 0125-877X SCI-Expanded
Öğr. Gör. REYHAN KARA →
Would mean platelet volume platelet count ratio be used as a novel formula to predict 22q11 2 deletion syndrome
2016 ISSN: 0125877X SCI-Expanded
Prof. Dr. HASİBE ARTAÇ →
Makale Bilgileri
ISSN0125877X
Yayın TarihiHaziran 2016
Cilt / Sayfa34 · 166-173
Scopus ID2-s2.0-84982290290
Özet
Background: The diagnosis of 22q11.2 deletion syndrome depends on a time-consuming and expensive method, fluorescence in situ hybridisation (FISH). Objectives: We aimed to determine new parameters which can aid for in the diagnosis of 22q11.2 deletion syndrome. Methods: Twenty two patients with 22q11.2 or 10p13 deletion were evaluated retrospectively. Results: Facial-dysmorphism and mental-motor retardation were detected in 100% of patients. Mean platelet (PLT) counts were lower (224,980 versus 354,000, p = 0.001), mean PLT volume (MPV) (9.95 versus 7.07, p = 0.002), and MPV/PLTx105 ratios (5.36 versus 2.08, p < 0.001) were higher in patients with 22q11.2 deletion compared with the control group. Area under the receiver-operator characteristic (ROC) curve was 0.864, sensitivity was 84.6%, specificity was 90.9%, positive predictive value (PPV) was 91.7%, and negative predictive value (NPV) was 83.3% when MPV was 8.6. Area under ROC curve was 0.864, sensitivity was 76.9%, specificity was 90.1%, PPV was 90.1%, and NPV was 76.3% when PLT was 265,500. Area under ROC curve was 0.906, sensitivity was 84.6%, specificity was 100%, PPV was 100%, and NPV was 84.6% when MPV/PLTx105 was 3.3. Expression of PLT surface markers which were not in the GPIb-V-IX receptor complex (CD61, CD41a) increased as the surface area increased, but markers which were in a complex (CD42a, CD42b) did not change. Conclusions: High MPV/PLT value can be a good predictor for the diagnosis of 22q11.2 deletion syndrome. We suggest that in patients with facial dysmorphism and retardation in neurodevelopmental milestones and if MPV≥8.6fl, MPV/PLTx105 ratio≥3.3 and PLT count ≤265,500/mm3, the patients should be tested by FISH analysis to confirm the 22q11.2 deletion. If there are no macrothrombocytes, the 10p13 deletion should be tested in suspected cases.
Yazarlar (9)
1
Bahar Gokturk
2
Sukru Nail Guner
3
Reyhan Kara
4
Mine Kirac
5
Sevgi Keles
6
Hasibe Artac
7
A. Zamani
8
M. S. Yildirim
9
Ismail Reisli
Anahtar Kelimeler
22q11.2 deletion syndrome
DiGeorge syndrome
Mean platelet volume
Platelet count
Platelet membrane glycoproteins
Kurumlar
Başkent Üniversitesi
Ankara Turkey
Necmettin Erbakan Üniversitesi
Meram Turkey
Selçuk Üniversitesi
Selçuklu Turkey
Scimago Dergi (ISSN Eşleşmesi)
Asian Pacific Journal of Allergy and Immunology
Q3
SJR Skoru0,505
H-Index43
YayıncıAllergy and Immunology Society of Thailand
ÜlkeThailand
Immunology (Q3)
Immunology and Allergy (Q3)
Medicine (miscellaneous) (Q3)
Metrikler
4
Atıf
9
Yazar
5
Anahtar Kelime